Canonical Allele Identifier: CA1754733

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88588803C>T , CM000664.2:g.88588803C>T	GRCh38
NC_000002.11:g.88888321C>T , CM000664.1:g.88888321C>T	GRCh37
NC_000002.10:g.88669436C>T	NCBI36
NG_016424.1:g.43774G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004836.7:c.1264G>A MANE Select	NP_004827.4:p.Ala422Thr
ENST00000303236.9:c.1264G>A MANE Select	ENSP00000307235.3:p.Ala422Thr
NM_001313915.1:c.811G>A	NP_001300844.1:p.Ala271Thr
NM_001313915.2:c.811G>A	NP_001300844.1:p.Ala271Thr
NM_004836.5:c.1264G>A	NP_004827.4:p.Ala422Thr
NM_004836.6:c.1264G>A	NP_004827.4:p.Ala422Thr
ENST00000303236.7:c.1264G>A	ENSP00000307235.3:p.Ala422Thr
ENST00000415570.1:c.901G>A	ENSP00000412076.1:p.Ala301Thr
ENST00000419748.5:c.811G>A	ENSP00000408325.1:p.Ala271Thr
ENST00000652099.1:c.1458G>A
ENST00000652736.1:n.1140G>A
ENST00000682276.1:n.709G>A
ENST00000682892.1:c.811G>A	ENSP00000507214.1:p.Ala271Thr
ENST00000682952.1:n.903G>A
ENST00000684455.1:c.477G>A
ENST00000684642.1:c.661G>A	ENSP00000507355.1:p.Ala221Thr
XM_005264649.3:c.580G>A	XP_005264706.1:p.Ala194Thr
XM_017005376.2:c.580G>A	XP_016860865.1:p.Ala194Thr
XR_939749.1:n.1473G>A